rs104893917

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs104893917(A;A)

Make rs104893917(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149980357

Gene

SLC26A2

is a	snp
is	mentioned by
dbSNP	rs104893917
dbSNP (classic)	rs104893917
ClinGen	rs104893917
ebi	rs104893917
HLI	rs104893917
Exac	rs104893917
Gnomad	rs104893917
Varsome	rs104893917
LitVar	rs104893917
Map	rs104893917
PheGenI	rs104893917
Biobank	rs104893917
1000 genomes	rs104893917
hgdp	rs104893917
ensembl	rs104893917
geneview	rs104893917
scholar	rs104893917
google	rs104893917
pharmgkb	rs104893917
gwascentral	rs104893917
openSNP	rs104893917
23andMe	rs104893917
SNPshot	rs104893917
SNPdbe	rs104893917
MSV3d	rs104893917
GWAS Ctlg	rs104893917

Max Magnitude

0

OMIM	606718
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893917(A;A)
Alt	rs104893917(A;A)
Reference	Rs104893917(G;G)
Significance	Pathogenic
Disease	Atelosteogenesis type 2
Variation	info
Gene	SLC26A2
CLNDBN	Atelosteogenesis type 2
Reversed	0
HGVS	NC_000005.9:g.149359920G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004308.3,